Genetic Analysis of Drusen Components in AMD

Principal Investigator

Project Summary


Slowing or preventing the progression of age-related macular degeneration (AMD) has become an important U.S. public health goal. Dr. Hagstrom is testing the hypothesis that biomarkers of AMD susceptibility exist in the blood. Physicians could use such a test for initiating preventive interventions to slow the progression of the disease and to monitor the effectiveness of therapies used to lower biomarker levels. A blood test would also allow physicians to alert those at risk to possible AMD risk factors (such as smoking, diet and sun exposure) and prescribe appropriate lifestyle modifications. The goal of this research is to identify genomic and proteomic markers of AMD susceptibility in a subset of the genes that have been identified as components of drusen that has been isolated from eyes with AMD. Dr. Hagstrom will also study the effects of oxidative protein modifications in the plasma from donors with AMD. The results of these studies could help scientists identify patient risk factors and design appropriate interventions to reduce them.

Publications

Sturgill, G.M., Pauer G.J., Simpson, E., Bala, E., Yaniglos, S., Crabb, J.W., Hollyfield, J.G., Lewis, H., Peachey, N.S., and Hagstrom, S.A. (2006) Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degeneration. Ophthalmic Genet. 27(4):151-155.  
 

First published on: June 11, 2008

Last modified on: November 22, 2024